Product Details

Primer Sequences

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Primer Chromosome Location

Chr.1: 245082102-245082327 on Build GRCh38 View in UCSC browser

Format

Each primer will be delivered in a single tube, dried-down

Quick Reference Guide

Primer Designer^™ Tool Quick Reference

Ampliseq ID's

Gene Details

Gene Symbol

EFCAB2

Entrez Gene ID

84288

Gene Name

EF-hand calcium binding domain 2

Gene Aliases

CFAP200, DRC8

UniGene

Hs.134857

Gene Chromosome Location

Chr.1: 244969739-245125228 on Build GRCh38

Transcripts

NM_001143943.1 NM_001290327.1 NM_032328.3 NR_026587.1 XM_011544300.2 XM_011544301.1 XM_011544302.2 XM_017002538.1 XM_017002539.1 XM_017002540.1 XM_017002541.1 XM_017002542.1 XM_017002543.1 XM_017002544.1 XM_017002545.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
5380316	c.637C>T	p.L213F	Chr.1: 245082128-245082128 on Build GRCh38
7365878	c.233C>T	p.P78L	Chr.1: 245082132-245082132 on Build GRCh38
2051556	c.220G>A	p.E74K	Chr.1: 245082119-245082119 on Build GRCh38
7136218	c.215G>T	p.R72L	Chr.1: 245082114-245082114 on Build GRCh38
1748277	c.256G>C	p.E86Q	Chr.1: 245082155-245082155 on Build GRCh38
6542154	c.219C>T	p.F73F	Chr.1: 245082118-245082118 on Build GRCh38
4647616	c.643G>A	p.V215M	Chr.1: 245082134-245082134 on Build GRCh38
4680284	c.670_671+2delAAGT	p.?	Chr.1: 245082161-245082164 on Build GRCh38
1204958	c.225A>C	p.K75N	Chr.1: 245082124-245082124 on Build GRCh38
5910171	c.232C>T	p.P78S	Chr.1: 245082131-245082131 on Build GRCh38
5928067	c.263+8A>G	p.?	Chr.1: 245082170-245082170 on Build GRCh38
5380315	c.229C>T	p.L77F	Chr.1: 245082128-245082128 on Build GRCh38
7365879	c.641C>T	p.P214L	Chr.1: 245082132-245082132 on Build GRCh38
4647615	c.235G>A	p.V79M	Chr.1: 245082134-245082134 on Build GRCh38
4680283	c.262_263+2delAAGT	p.?	Chr.1: 245082161-245082164 on Build GRCh38
4030374	c.671+2T>A	p.?	Chr.1: 245082164-245082164 on Build GRCh38
3785212	c.622C>T	p.R208*	Chr.1: 245082113-245082113 on Build GRCh38
6542155	c.627C>T	p.F209F	Chr.1: 245082118-245082118 on Build GRCh38
7136219	c.623G>T	p.R208L	Chr.1: 245082114-245082114 on Build GRCh38
4030373	c.263+2T>A	p.?	Chr.1: 245082164-245082164 on Build GRCh38
5928068	c.671+8A>G	p.?	Chr.1: 245082170-245082170 on Build GRCh38
3785211	c.214C>T	p.R72*	Chr.1: 245082113-245082113 on Build GRCh38
2051557	c.628G>A	p.E210K	Chr.1: 245082119-245082119 on Build GRCh38
5910172	c.640C>T	p.P214S	Chr.1: 245082131-245082131 on Build GRCh38
310812	c.211A>G	p.I71V	Chr.1: 245082110-245082110 on Build GRCh38
5661199	c.619A>G	p.I207V	Chr.1: 245082110-245082110 on Build GRCh38
1748278	c.664G>C	p.E222Q	Chr.1: 245082155-245082155 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs754898871	Chr.1: 245082161-245082164 on Build GRCh38
rs747189599	Chr.1: 245082183-245082183 on Build GRCh38
rs963309705	Chr.1: 245082285-245082285 on Build GRCh38
rs767268130	Chr.1: 245082133-245082133 on Build GRCh38
rs762808379	Chr.1: 245082199-245082199 on Build GRCh38
rs775167425	Chr.1: 245082134-245082134 on Build GRCh38
rs552786395	Chr.1: 245082294-245082294 on Build GRCh38
rs777961622	Chr.1: 245082149-245082149 on Build GRCh38
rs139647250	Chr.1: 245082245-245082245 on Build GRCh38
rs772822033	Chr.1: 245082194-245082194 on Build GRCh38
rs772187066	Chr.1: 245082171-245082171 on Build GRCh38
rs35596803	Chr.1: 245082273-245082273 on Build GRCh38
rs776609813	Chr.1: 245082268-245082268 on Build GRCh38
rs745934700	Chr.1: 245082167-245082167 on Build GRCh38
rs1001548218	Chr.1: 245082189-245082189 on Build GRCh38
rs550896535	Chr.1: 245082231-245082231 on Build GRCh38
rs1055732212	Chr.1: 245082214-245082214 on Build GRCh38
rs531126702	Chr.1: 245082230-245082230 on Build GRCh38
rs768597228	Chr.1: 245082256-245082256 on Build GRCh38
rs781224893	Chr.1: 245082160-245082161 on Build GRCh38
rs761305694	Chr.1: 245082305-245082305 on Build GRCh38
rs768941322	Chr.1: 245082184-245082184 on Build GRCh38
rs7551261	Chr.1: 245082132-245082132 on Build GRCh38
rs950836298	Chr.1: 245082255-245082255 on Build GRCh38
rs571582954	Chr.1: 245082226-245082226 on Build GRCh38
rs775657519	Chr.1: 245082173-245082173 on Build GRCh38
rs757648347	Chr.1: 245082157-245082157 on Build GRCh38
rs779540752	Chr.1: 245082164-245082164 on Build GRCh38
rs756471739	Chr.1: 245082136-245082136 on Build GRCh38
rs536901040	Chr.1: 245082271-245082271 on Build GRCh38
rs749686955	Chr.1: 245082150-245082150 on Build GRCh38

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